✦ LIBER ✦

Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

✍ Scribed by Kulharya, Anita S. ;Maberry, Mark ;Kukolich, Mary K. ;Day, Donald W. ;Schneider, Nancy R. ;Wilson, Golder N. ;Tonk, Vijay

Book ID: 101448109
Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 495 KB
Volume: 55
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320550206

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Longitudinal observation of a patient wi

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)

✍ Lilia Moreira; Albert Schinzel; Alessandra Baumer; Paula Pinto; Fátima Góes; Mar 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB 👁 2 views

## Abstract Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene __PIT X2__ (former __RIE

Two cases of interstitial deletion of th

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

✍ F. A. Beemer; J. M. Klep-de Pater; G. J. Sepers; B. Janssen 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 364 KB

Phenotypic variability of a deletion and

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)

✍ Ana Spreiz; Doris Müller; Sibylle Zotter; Ursula Albrecht; Matthias Baumann; Chr 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 235 KB 👁 2 views

Interstitial 11q deletion derived from a

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review

✍ Laura J.C.M. Van Zutven; Yolande van Bever; Carolien C.M. Van Nieuwland; Gido C. 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 328 KB 👁 2 views

A new case of an interstitial deletion (

A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature

✍ Sandra Anna Becker,Susanne Popp,Klaus Rager,Anna Jauch 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 253 KB

Developmental delay and facial dysmorphi

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome

✍ Stephanie Moortgat; Christine Verellen-Dumoulin; Isabelle Maystadt; Benoit Parme 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 423 KB